SNP Links for Gene (Select 646813) - SNP

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Items: 1 to 20 of 4499

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Select item 14910789311.

rs1491078931 has merged into rs146641009 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 11:50417052 (GRCh38)
11:50376223 (GRCh37)
Canonical SPDI:: NC_000011.10:50417045:AAAAAAAA:AAAAAA,NC_000011.10:50417045:AAAAAAAA:AAAAAAA,NC_000011.10:50417045:AAAAAAAA:AAAAAAAAA,NC_000011.10:50417045:AAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.01438/72 (1000Genomes)
A=0.08297/152 (Korea1K)
HGVS:: NC_000011.10:g.50417052_50417053del, NC_000011.10:g.50417053del, NC_000011.10:g.50417053dup, NC_000011.10:g.50417046_50417053dup, NC_000011.9:g.50376223_50376224del, NC_000011.9:g.50376224del, NC_000011.9:g.50376224dup, NC_000011.9:g.50376217_50376224dup

Select item 14909079142.

rs1490907914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:50417857 (GRCh38)
11:50377028 (GRCh37)
Canonical SPDI:: NC_000011.10:50417856:G:A,NC_000011.10:50417856:G:T
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.50417857G>A, NC_000011.10:g.50417857G>T, NC_000011.9:g.50377028G>A, NC_000011.9:g.50377028G>T

Select item 14908668523.

rs1490866852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:50416976 (GRCh38)
11:50376147 (GRCh37)
Canonical SPDI:: NC_000011.10:50416975:C:A,NC_000011.10:50416975:C:G,NC_000011.10:50416975:C:T
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.50416976C>A, NC_000011.10:g.50416976C>G, NC_000011.10:g.50416976C>T, NC_000011.9:g.50376147C>A, NC_000011.9:g.50376147C>G, NC_000011.9:g.50376147C>T

Select item 14900492584.

rs1490049258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:50414894 (GRCh38)
11:50374065 (GRCh37)
Canonical SPDI:: NC_000011.10:50414893:T:C
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.50414894T>C, NC_000011.9:g.50374065T>C

Select item 14900485685.

rs1490048568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:50416425 (GRCh38)
11:50375596 (GRCh37)
Canonical SPDI:: NC_000011.10:50416424:C:A
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.50416425C>A, NC_000011.9:g.50375596C>A

Select item 14900335926.

rs1490033592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:50414171 (GRCh38)
11:50373342 (GRCh37)
Canonical SPDI:: NC_000011.10:50414170:G:A
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.50414171G>A, NC_000011.9:g.50373342G>A

Select item 14900328607.

rs1490032860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:50414863 (GRCh38)
11:50374034 (GRCh37)
Canonical SPDI:: NC_000011.10:50414862:G:A,NC_000011.10:50414862:G:T
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.50414863G>A, NC_000011.10:g.50414863G>T, NC_000011.9:g.50374034G>A, NC_000011.9:g.50374034G>T

Select item 14898874318.

rs1489887431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:50414565 (GRCh38)
11:50373736 (GRCh37)
Canonical SPDI:: NC_000011.10:50414564:A:G
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.50414565A>G, NC_000011.9:g.50373736A>G

Select item 14898842569.

rs1489884256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:50415655 (GRCh38)
11:50374826 (GRCh37)
Canonical SPDI:: NC_000011.10:50415654:G:A
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.50415655G>A, NC_000011.9:g.50374826G>A

Select item 148987154510.

rs1489871545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:50413822 (GRCh38)
11:50372993 (GRCh37)
Canonical SPDI:: NC_000011.10:50413821:G:A,NC_000011.10:50413821:G:T
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.50413822G>A, NC_000011.10:g.50413822G>T, NC_000011.9:g.50372993G>A, NC_000011.9:g.50372993G>T

Select item 148985042111.

rs1489850421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:50419408 (GRCh38)
11:50378579 (GRCh37)
Canonical SPDI:: NC_000011.10:50419407:T:A
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.50419408T>A, NC_000011.9:g.50378579T>A

Select item 148981251612.

rs1489812516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:50409914 (GRCh38)
11:50369085 (GRCh37)
Canonical SPDI:: NC_000011.10:50409913:T:A
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.50409914T>A, NC_000011.9:g.50369085T>A

Select item 148948776913.

rs1489487769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:50412485 (GRCh38)
11:50371656 (GRCh37)
Canonical SPDI:: NC_000011.10:50412484:T:C
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.50412485T>C, NC_000011.9:g.50371656T>C

Select item 148903183014.

rs1489031830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:50419053 (GRCh38)
11:50378224 (GRCh37)
Canonical SPDI:: NC_000011.10:50419052:G:A,NC_000011.10:50419052:G:T
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.50419053G>A, NC_000011.10:g.50419053G>T, NC_000011.9:g.50378224G>A, NC_000011.9:g.50378224G>T

Select item 148896553915.

rs1488965539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:50411858 (GRCh38)
11:50371029 (GRCh37)
Canonical SPDI:: NC_000011.10:50411857:G:C
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.50411858G>C, NC_000011.9:g.50371029G>C

Select item 148877794716.

rs1488777947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:50408449 (GRCh38)
11:50367620 (GRCh37)
Canonical SPDI:: NC_000011.10:50408448:C:T
Gene:: LOC646813 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.50408449C>T, NC_000011.9:g.50367620C>T

Select item 148862784917.

rs1488627849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:50412735 (GRCh38)
11:50371906 (GRCh37)
Canonical SPDI:: NC_000011.10:50412734:A:G
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.50412735A>G, NC_000011.9:g.50371906A>G

Select item 148853224518.

rs1488532245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:50417675 (GRCh38)
11:50376846 (GRCh37)
Canonical SPDI:: NC_000011.10:50417674:A:T
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.50417675A>T, NC_000011.9:g.50376846A>T

Select item 148853148919.

rs1488531489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:50412214 (GRCh38)
11:50371385 (GRCh37)
Canonical SPDI:: NC_000011.10:50412213:C:G,NC_000011.10:50412213:C:T
Gene:: LOC646813 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.50412214C>G, NC_000011.10:g.50412214C>T, NC_000011.9:g.50371385C>G, NC_000011.9:g.50371385C>T

Select item 148837135920.

rs1488371359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:50407366 (GRCh38)
11:50366537 (GRCh37)
Canonical SPDI:: NC_000011.10:50407365:A:G
Gene:: LOC646813 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.50407366A>G, NC_000011.9:g.50366537A>G

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